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Introduction: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. Case Description. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a de novo reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements. Conclusion: This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.
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INTRODUCTION: Anderson-Hynes pyeloplasty is the technique of choice for the treatment of pyeloureteral junction obstruction (PUJO) with an excellent success rate. Minimally invasive surgery has become the standard of care for the management of PUJO in children. Although it has been comparable to the open approach at all levels, its diffusion or employment in younger children has not been widely adopted. Our aim is to evaluate laparoscopic pyeloplasty outcomes from international academic centers in children under 1 year of age, focusing on feasibility and outcomes including possible complications. MATERIALS AND METHODS: This is review of consecutive infants under 1 year of age who underwent laparoscopic pyeloplasty between 2009 and 2018 with more than 12 months of follow-up. Seven different training centers with different backgrounds participated in this study. Evaluation was carried out with ultrasound and renogram before and after surgery. Demographic data, perioperative characteristics, complications, and results are described and analyzed. RESULTS: Over 9 years, 124 transperitoneal laparoscopic Anderson-Hynes pyeloplasties were performed on 123 children under 1 year of age; 88 males and 35 females, with 1 case of bilateral PUJO. Of the 124 renal units, 86 were left-sided. Mean age at surgery was 6.6 months (1 week-12 months), with 56% (n = 70) done before 6 months of age. Mean weight at surgery was 6.8 kg (3-12 kg), with 59% (n = 73) weighing less than 8 kg. Mean operative time (skin-to-skin) was 150 min (75-330 min). After a mean follow-up of 46 months (12-84 months), 12 (9%) patients developed complications, with only 1 needing a redo pyeloplasty also done laparoscopically. One child, with deterioration in renal function, underwent nephrectomy. CONCLUSION: Laparoscopic pyeloplasty under 1 year of age and/or less than 12 kilos is feasible with lower complication rate. Furthermore, age younger than 6 months and weight less than 8 kg are no longer limiting factors for a successful pyeloplasty as shown by this multicentre study.
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Hidronefrose , Pelve Renal , Laparoscopia , Obstrução Ureteral , Hidronefrose/cirurgia , Pelve Renal/anormalidades , Pelve Renal/cirurgia , Obstrução Ureteral/cirurgia , Humanos , Masculino , Feminino , Lactente , Procedimentos Cirúrgicos Minimamente Invasivos , Resultado do Tratamento , Estudos RetrospectivosRESUMO
Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically. In this pictorial review, we explore the anatomical, radiological and surgical correlations of pelviureteric junction obstruction in the context of a normal kidney and a spectrum of renal abnormalities, including hyper-rotation (also known as renal malrotation), failed renal ascent, fusion anomalies and accessory crossing renal vessels. For each scenario, we provide technical tips on how to identify the altered anatomy at the first ultrasound assessment and correlation with scintigraphic, cross-sectional and postoperative imaging where appropriate. A detailed ultrasound protocol specifically to assess and characterise pelviureteric junction obstruction in paediatric patients is also offered.
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Hidronefrose , Nefropatias , Rim Displásico Multicístico , Obstrução Ureteral , Criança , Humanos , Estudos Transversais , Rim/anormalidades , Obstrução Ureteral/cirurgia , Rim Displásico Multicístico/complicações , Nefropatias/complicaçõesRESUMO
PURPOSE: The Anderson-Hynes technique has been the treatment of choice for primary ureteropelvic junction obstruction in children. Laparoscopic approach has shown similar outcomes to open, with advantages of shorter hospital stay and less pain. We reviewed the experience of 11 geographically diverse, tertiary pediatric urology institutions focusing on the outcomes and complications of laparoscopic pyeloplasty. MATERIALS AND METHODS: A descriptive, retrospective study was conducted evaluating patients undergoing Anderson-Hynes dismembered laparoscopic pyeloplasty. Centers from four different continents participated. Demographic data, perioperative management, results, and complications are described. RESULTS: Over a 9-year period, 744 laparoscopic pyeloplasties were performed in 743 patients. Mean follow-up was 31 months (6-120m). Mean age at surgery was 82 months (1 w-19 y). Median operative time was 177 min. An internal stent was placed in 648 patients (87%). A catheter was placed for bladder drainage in 702 patients (94%). Conversion to open pyeloplasty was necessary in seven patients. Average length of hospital stay was 2.8 days. Mean time of analgesic requirement was 3.2 days. Complications, according to Clavien-Dindo classification, were observed in 56 patients (7.5%); 10 (1%) were Clavien-Dindo IIIb. Treatment failure occurred in 35 cases with 30 requiring redo pyeloplasty (4%) and 5 cases requiring nephrectomy (0.6%). CONCLUSION: We have described the laparoscopic pyeloplasty experience of institutions with diverse cultural and economic backgrounds. They had very similar outcomes, in agreement with previously published data. Based on these findings, we conclude that laparoscopic pyeloplasty is safe and successful in diverse geographics areas of the world.
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Laparoscopia , Obstrução Ureteral , Criança , Humanos , Atitude , Pelve Renal/cirurgia , Laparoscopia/métodos , Estudos Retrospectivos , Resultado do Tratamento , Obstrução Ureteral/cirurgia , Obstrução Ureteral/etiologia , Procedimentos Cirúrgicos Urológicos/métodosRESUMO
Context: Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective: We aimed to better understand the presentation and prevalence of pediatric DSD. Methods: A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results: Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion: DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.
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OBJECTIVE: To validate the Hindi translation of Survey of well-being of young children (SWYC), a screening questionnaire to detect developmental delay and emotional-behavior problems by primary caregivers in Indian children. METHODS: This cross-sectional observational study was done at the child development clinic of our private-sector tertiary care hospital. 180 children of either sex, 60 each in age group of 9, 18 and 24 months were enrolled in the study (30 high-risk and 30 low-risk in each group). Hindi translated version of SWYC age-specific questionnaire was administered to the parents, followed by a standardized development assessment by using the Bayley Scale of Infant and Toddler Development (BSID III). RESULT: SWYC Milestone score and Emotional/behavior scores showed a statistically significant correlation with BSID III (P<0.001). Milestone score's overall sensitivity in detecting developmental delay was 94.4% and specificity was 93.4%. The sensitivity was best for the 24-month (100%) and specificity was best for 18-month questionnaire (96.7%). Behavioral score's overall sensitivity was 68.4% and specificity 92.3%. The best sensitivity was for 18-month questionnaire (72%), and specificity for 24-month questionnaire (100%). SWYC had better sensitivity for detecting developmental delay in high-risk group (95.4%), and higher specificity in low risk group (95.5%). CONCLUSION: SWYC has strong test characteristics for detecting milestone delay and emotional/behavior problems in Indian children.
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Desenvolvimento Infantil , Deficiências do Desenvolvimento , Criança , Pré-Escolar , Estudos Transversais , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Humanos , Lactente , Pais , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: Bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member have been reported, and a twin concordance study supported a genetic contribution to pathogenesis. Moreover, diverse chromosomal aberrations have been reported in a small subset of individuals with BEEC. The commonest are 22q11.2 microduplications, identified in approximately 3% of BEEC index cases. OBJECTIVES: We aimed to refine the chromosome 22q11.2 locus, and to determine whether the encompassed genes are expressed in normal developing and mature human urinary bladders. RESULTS: Using DNA from an individual with CBE, the 22q11.2 duplicated locus was refined by identification of a maternally inherited 314 kb duplication (chr22:21,147,293-21,461,017), as depicted in this image. Moreover, the eight protein coding genes within the locus were found to be expressed during normal developing and mature bladders. To determine whether duplications in any of these individual genes were associated with CBE, we undertook copy number analyses in 115 individuals with CBE without duplications of the whole locus. No duplications of individual genes were found. DISCUSSION: The current study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes are expressed in human bladders both during antenatal development and postnatally. Nevertheless, the precise biological explanation as to why duplication of the phenocritical region of 22q11 confers increased susceptibility to BEEC remains to be determined. The fact that individuals with CBE without duplications of the whole locus also lacked duplication of any of the individual genes suggests that in individuals with BEEC and duplication of the 22q11.2 locus altered dosage of more than one gene may be important in BEEC etiology. CONCLUSIONS: The study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes within this locus are expressed in human bladders.
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Extrofia Vesical , Epispadia , Extrofia Vesical/genética , Extrofia Vesical/patologia , Cromossomos/metabolismo , Epispadia/genética , Epispadia/patologia , Feminino , Humanos , Gravidez , Bexiga Urinária/anormalidadesRESUMO
The role of the urologist in paediatric kidney transplantation has evolved alongside advances in management for the various causes of end-stage kidney disease. Improvements in antenatal intervention and postnatal care have seen children with increasingly complex urological anomalies survive until transplant. Once solely responsible for the oversight of a child's surgical care, the paediatric urologist now works within a multidisciplinary transplant team, alongside transplant surgeons, paediatric nephrologists, transplant coordinators, psychologists, social workers, and transitional care specialists. We sought to identify available pretransplant evaluation frameworks to guide urological preparation and decision-making. Drawing from available evidence and reflecting on multi-institutional experience, we propose a streamlined approach to urologic assessment, which recognises that optimal transplant outcomes in this heterogenous cohort require lower urinary tract dysfunction to be carefully defined preoperatively.
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Falência Renal Crônica , Transplante de Rim , Transplantes , Criança , Feminino , Humanos , Falência Renal Crônica/cirurgia , Gravidez , Bexiga UrináriaRESUMO
Bladder exstrophy (BEX) is a rare developmental abnormality resulting in an open, exposed bladder plate. Although normal bladder urothelium is a mitotically quiescent barrier epithelium, histologic studies of BEX epithelia report squamous and proliferative changes that can persist beyond surgical closure. The current study examined whether patient-derived BEX epithelial cells in vitro were capable of generating a barrier-forming epithelium under permissive conditions. Epithelial cells isolated from 11 BEX samples, classified histologically as transitional (n = 6) or squamous (n = 5), were propagated in vitro. In conditions conducive to differentiated tight barrier formation by normal human urothelial cell cultures, 8 of 11 BEX lines developed transepithelial electrical resistances of more than 1000 Ω.cm2, with 3 squamous lines failing to generate tight barriers. An inverse relationship was found between expression of squamous KRT14 transcript and barrier development. Transcriptional drivers of urothelial differentiation PPARG, GATA3, and FOXA1 showed reduced expression in squamous BEX cultures. These findings implicate developmental interruption of urothelial transcriptional programming in the spectrum of transitional to squamous epithelial phenotypes found in BEX. Assessment of BEX epithelial phenotype may inform management and treatment strategies, for which distinction between reversible versus intractably squamous epithelium could identify patients at risk of medical complications or those who are most appropriate for reconstructive tissue engineering strategies.
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Carcinoma de Células Escamosas , Bexiga Urinária , Carcinoma de Células Escamosas/patologia , Diferenciação Celular , Células Epiteliais/metabolismo , Humanos , Bexiga Urinária/metabolismo , Urotélio/metabolismoRESUMO
OBJECTIVE: To investigate sexual function and subjective attitudes towards surgery in adult women after feminizing genitoplasty (FG) for congenital adrenal hyperplasia (CAH). MATERIALS AND METHODS: We retrospectively reviewed the medical files of patients who underwent FG from 1996 to 2018. Of those, patients older than 16 years of age were asked to answer non-standardized questions aiming at the awareness of genital surgery and standardized questionnaire evaluating sexual function (GRISS). The anonymized answers were compared to a control group of 50 healthy females. Student's t-test, Pearson's χ2 test, Fisher's exact test and Spearman's rank correlation coefficient were performed. A P-value less than 0.05 was considered significant. RESULTS: Out of 106 patients who underwent FG, 64 were included, 55 successfully contacted and 32, aged 17-40 years (median 25.5), answered the questionnaires (58% response rate). In all, 11 patients underwent historical clitorectomy in early childhood by a pediatric gynecologist before 1996 and pull-through vaginoplasty at puberty. A total of 21 patients underwent modern one- or two-staged FG. There were statistically significant differences between the CAH group and controls as to the proportion living in committed partnerships (28% and 84%, respectively; p = 0.0000), having sexual intercourse (41% and 92%, respectively; p = 0.0000) and having their own children (13% and 36%, respectively; p = 0.0369). The median overall GRISS score was 4 (range 1-7) in the CAH group compared to 1 (range 1-9) in the control group, with infrequency and vaginismus representing the least favorable subscales (median 5). In all, 81% of the women operated on for CAH would recommend such an operation to any other individual with CAH and 66% of them suggested the surgery should be performed in early childhood. DISCUSSION: By this study we have contributed to the debate over suggestions that FG may cause adverse effects on sexual life of the patients in adulthood, beside already published effects on their mental well-being and LUTS. Despite possible selection bias due to only 58% response rate the comparison with control group shows only a moderate sexual dysfunction and more significant impact on long-term partnership that might be caused by other factors related to CAH beside FG itself. CONCLUSIONS: Partnership, offspring, sexual frequency and function were impaired in adult females with CAH after FG. However, the median GRISS score was below the pathological level of 5.
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Hiperplasia Suprarrenal Congênita , Adolescente , Hiperplasia Suprarrenal Congênita/cirurgia , Adulto , Criança , Pré-Escolar , Feminino , Procedimentos Cirúrgicos em Ginecologia , Humanos , Masculino , Estudos Retrospectivos , Comportamento Sexual , Procedimentos Cirúrgicos UrogenitaisRESUMO
The operations involved in the repair of complete bladder exstrophy (CBE), familiarly known as the Kelly procedure, evolved over more than 100 years. Through repeated cycles of trial and error, some of the most prominent urologists in the world developed techniques that addressed each of the formidable surgical challenges presented by CBE and epispadias. A key figure is Justin H. Kelly of the Royal Children's Hospital, Melbourne, who made surgery for CBE his life's work. He took the lessons of his surgical predecessors, giants like: Friedrich Trendelenburg, Hugh Hampton Young, John Dees, and Guy Leadbetter, applied techniques for anorectal anomalies from his contemporary Alberto Peña, and saw his procedures improved by the next generation of leaders in paediatric urology that included Phillip Ransley, Peter Cuckow, Patrick Duffy, and John Gearhart. Over his long career, Mr Kelly modified and perfected his eponymous procedure patient-by-patient through a painstaking process of trial-and-error, bearing with his young patients and their families through every heart-breaking complication, and gradually creating the standard operation for children with CBE and epispadias.
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Extrofia Vesical , Epispadia , Cirurgia Geral , Extrofia Vesical/cirurgia , Epispadia/cirurgia , Cirurgia Geral/história , História do Século XX , HumanosRESUMO
BACKGROUND: Cloacal exstrophy (CE) is the most severe end of the Exstrophy-Epispadias Complex malformations spectrum. Improvements in postnatal management and well-established operative techniques have resulted in survival rates approaching 100%. This systematic review aims to define the prevalence of long-term active medical problems affecting CE patients after the first decade of life. METHODS: PubMed/Medline, Embase, Scopus, and ISI Web of Knowledge databases were used for the literature search. Original articles related to medical, surgical, and psychosocial long-term problems in CE patients >10 years of age were included in the study. Quality assessment of the articles was performed through the Newcastle-Ottawa Scale. Prevalence estimates and 95% CI were assessed for each outcome. RESULTS: Twelve studies were included. The most common long-term active problems identified were: urinary incontinence with a prevalence ranging from 9.1% to 85%; sexual function issues related to vaginal anomalies with a prevalence ranging from 8.3% to 71.3%, and uterine anomalies, with a prevalence from 14.3% to 71%; gender identity issues in 46, XY patients raised female had a prevalence from 11.1% to 66.7%. There is no documented history of paternity. Impairment of ambulatory capacity was recorded in 13.8% of patients. Only one paper studied psychological well-being, reporting significantly higher levels of depression among gender reassigned patients. CONCLUSIONS: Teenagers and adults born with CE have well defined long-term problems compared to the general population. Recognition and expert management are crucial to improve care and quality of life during and after the transition into adulthood.
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Extrofia Vesical , Epispadia , Adolescente , Adulto , Animais , Extrofia Vesical/epidemiologia , Extrofia Vesical/cirurgia , Cloaca , Feminino , Identidade de Gênero , Humanos , Masculino , Qualidade de VidaRESUMO
PURPOSE: To review surgical management, tumour stage and clinical outcomes in children with intravascular extension of Wilms tumour (WT) registered in a national clinical study (2012-19). METHODS: WTs with presence/suspicion of tumour thrombus in the renal vein (RV) or beyond on radiology, surgery or pathology case report forms were identified. Only cases where thrombus was confirmed by surgeon and/or reference pathologist were included. Surgical management, disease stage, overall (OS) and event free survival (EFS) were investigated. RESULTS: 69/583 (11.8%) patients met the inclusion criteria. Forty-six (67%) had abdominal stage III due to thrombus-related reasons: 11 had macroscopically incomplete resection, including 8 cases where cavotomy was not performed; 20 had piecemeal complete resection of thrombus; 15 had microscopically positive resection margins at the RV. 66% of tumour thrombi contained viable tumour. There were eight relapses and five deaths. EFS, but not OS, was significantly associated with completeness of surgical resection (P<0.05). OS and EFS were also significantly associated with histological risk group (P<0.05) but not with viability of tumour thrombus (P=0.19; P=0.59). CONCLUSIONS: WTs with intravascular extension have a high risk of local stage III due to thrombus-related reasons. Controlled complete removal of the thrombus should be the aim of surgery. LEVEL OF EVIDENCE: Level II.
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Neoplasias Renais , Trombose , Tumor de Wilms , Criança , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Intervalo Livre de Progressão , Trombose/etiologia , Tumor de Wilms/patologia , Tumor de Wilms/cirurgiaRESUMO
CONTEXT: Adolescents experience many types of gingival and periodontal diseases, including gingivitis, localized or generalized aggressive periodontitis, and periodontal complications of various systemic diseases. The occurrence of periodontal diseases is not only related to biotic factors but may also be affected by nonbiotic factors such as oral health behaviors and practices. Various factors that influence an individual's health-related behaviors include a psychosocial construct named sense of coherence (SOC). AIM: The aim of this study is to investigate the association of SOC with oral health behaviors and gingival bleeding. SETTINGS AND DESIGN: This was a cross-sectional, analytical study that was done in the school setting. MATERIALS AND METHODS: A random sample of 850 adolescents was selected from nine schools of the Faridabad block of Faridabad district (Haryana) through the multistage cluster sampling technique. Methods of data collection included a combination of questionnaire administration and clinical examination. The questionnaire comprised sociodemographic variables, questions related to oral health behaviors, and Antonovsky's SOC scale. The questionnaire was interviewer administered. STATISTICAL ANALYSIS: Unadjusted and adjusted rate ratios of gingival units having bleeding on probing were estimated by Poisson regression multilevel analysis in Statistical Package for the Social Sciences (SPSS) software for Microsoft Office. RESULTS: Adolescents whose mothers had studied <8 years (relative risk [RR] 1.26; 95% confidence interval [CI] 1.04-1.38), who were males (RR 1.198; 95% CI 1.01-1.29), low SOC (RR 15.93; 95% CI 13.06-19.35), and toothbrushing frequency of less than once a day (RR 1.43; 95% CI 1.21-1.67) and children with plaque index >1 (RR 2.765; 95% CI 2.12-3.25) presented with the higher number of gingival units having bleeding. CONCLUSION: SOC is associated with gingival bleeding through oral health behaviors.
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INTRODUCTION: The bell-clapper deformity (BCD) predisposes to intravaginal torsion (IVT) and is classically bilateral. The precise pathological definition of what constitutes a BCD is not clear. The current study aims to clarify the specific anatomic details of this anomaly. METHODS: A systematic review was performed utilizing the PRISMA principles. Studies are presented chronologically based on their level of evidence. They are further divided into study types: autopsy and operative studies of acute torsion, intermittent torsion and studies of the contralateral testis in vanishing testis. RESULTS: The bell-clapper deformity is best defined by complete investment of the testis, epididymis and a length of the spermatic cord by the tunica vaginalis. Based on autopsy studies the rate of BCD in scrotal testis varied from 4.9% to 16%; with bilaterality in 66%-100%. In cases of acute IVT bilaterality was noted in 54%-100%. The most disparate results were in cases of testicular regression syndrome where contralateral BCD was noted in 0%-87% of cases. CONCLUSION: We suggest future studies employ the strict anatomical definition above. As there is evidence of age-dependent investment of the testes, it will be important to develop age-standardized measurements of intravaginal length of spermatic cord. This critical morphometric measurement will allow a better understanding of the risk of IVT. LEVEL OF EVIDENCE: Systematic review of diagnostic studies: lowest level of evidence of included manuscripts Level IV (case-control studies with a poor reference standard).
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Criptorquidismo , Disgenesia Gonadal 46 XY , Torção do Cordão Espermático , Cordão Espermático , Humanos , Masculino , Torção do Cordão Espermático/cirurgiaRESUMO
PURPOSE: We investigated quality of life, long-term lower urinary tract symptoms, sexual function and subjective attitudes toward surgery in adult women after feminizing genitoplasty for congenital adrenal hyperplasia. MATERIALS AND METHODS: We retrospectively reviewed the medical files of all patients with congenital adrenal hyperplasia who underwent feminizing genitoplasty from 1996 to 2018 in our tertiary center. Of those, patients older than 16 years of age were asked to answer 1 nonvalidated and 3 standardized and validated questionnaires evaluating their current mental well-being (WHO-5 Well-Being Index), lower urinary tract symptoms (ICIQ-FLUTS) and sexual function (GRISS). The anonymized answers of this cross-sectional study were compared to a control group of 50 healthy females. Student's t-test, Pearson's χ2 test, Fisher's exact test and Spearman's rank correlation coefficient were performed. A p-value less than 0.05 was considered significant. RESULTS: Out of 106 patients who underwent feminizing genitoplasty, 64 patients were included and 32 patients, aged 17 to 40 years (median 25.5 years), answered the questionnaires (50% response rate). The difference between congenital adrenal hyperplasia and control group mental well-being was not statistically significant (WHO-5 median score 60 and 64, respectively; p=0.82). We found no significant difference in the lower urinary tract symptoms subscales of filling, voiding or incontinence, nor in the overall lower urinary tract symptoms score (ICIQ-FLUTS overall median score 3.5 and 3, respectively; p=0.43). CONCLUSIONS: We found in our group no abnormal mental well-being or prevalence of long-term symptoms of lower urinary tract dysfunction in adult female patients with congenital adrenal hyperplasia following feminizing genitoplasty.
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Hiperplasia Suprarrenal Congênita/cirurgia , Genitália Feminina/cirurgia , Sintomas do Trato Urinário Inferior/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Cirurgia de Readequação Sexual , Adolescente , Adulto , Atitude Frente a Saúde , Estudos Transversais , Feminino , Humanos , Qualidade de Vida , Estudos Retrospectivos , Autorrelato , Cirurgia de Readequação Sexual/psicologia , Sexualidade/fisiologia , Adulto JovemRESUMO
Techniques of behavior modification were employed to address the target behavior of functional excessive coughing-psychogenic cough in a 12-y-old boy referred by a pediatrician who found no identifiable medical reasons. To identify the purpose that maintains the behavior, functional behavior assessment was carried out and in order to reduce the frequency of target behavior, extinction and differential reinforcement of behavior analysis was incorporated. The management resulted in significant decrease of the target behavior of coughing without any medical intervention. Behavior modification is the most empirically supported intervention not only for children with developmental delays but for typical individuals as well.
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Terapia Comportamental , Reforço Psicológico , Criança , Tosse , Família , Humanos , MasculinoRESUMO
Adult cancers often arise from premalignant clonal expansions. Whether the same is true of childhood tumors has been unclear. To investigate whether Wilms tumor (nephroblastoma; a childhood kidney cancer) develops from a premalignant background, we examined the phylogenetic relationship between tumors and corresponding normal tissues. In 14 of 23 cases studied (61%), we found premalignant clonal expansions in morphologically normal kidney tissues that preceded tumor development. These clonal expansions were defined by somatic mutations shared between tumor and normal tissues but absent from blood cells. We also found hypermethylation of the H19 locus, a known driver of Wilms tumor development, in 58% of the expansions. Phylogenetic analyses of bilateral tumors indicated that clonal expansions can evolve before the divergence of left and right kidney primordia. These findings reveal embryonal precursors from which unilateral and multifocal cancers develop.
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Células Clonais , Metilação de DNA , Neoplasias Renais/genética , Rim/patologia , Lesões Pré-Cancerosas/patologia , Tumor de Wilms/genética , Criança , Humanos , Rim/embriologia , Neoplasias Renais/patologia , Mutação , Filogenia , Tumor de Wilms/patologiaRESUMO
Tissue-resident immune cells are important for organ homeostasis and defense. The epithelium may contribute to these functions directly or by cross-talk with immune cells. We used single-cell RNA sequencing to resolve the spatiotemporal immune topology of the human kidney. We reveal anatomically defined expression patterns of immune genes within the epithelial compartment, with antimicrobial peptide transcripts evident in pelvic epithelium in the mature, but not fetal, kidney. A network of tissue-resident myeloid and lymphoid immune cells was evident in both fetal and mature kidney, with postnatal acquisition of transcriptional programs that promote infection-defense capabilities. Epithelial-immune cross-talk orchestrated localization of antibacterial macrophages and neutrophils to the regions of the kidney most susceptible to infection. Overall, our study provides a global overview of how the immune landscape of the human kidney is zonated to counter the dominant immunological challenge.